A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003781



Internal ID10372935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:141154..201457hg38UCSC Ensembl
Innerchr20:121795..182098hg19UCSC Ensembl
Innerchr20:69795..130098hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3860304
hg1960304
hg1860304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763662
Supporting Variants
SamplesSW_1467
Known GenesDEFB126, DEFB127, DEFB128
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7003781
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer